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Re: Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis
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Urolithiasis/Endourology Re: Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis D. A. Braun, J. A. Lawson, H. Y. Gee, J. Halbritter, S. Shril, W. Tan, D. Stein, A. J. Wassner, M. A. Ferguson, Z. Gucev, B. Fisher, L. Spaneas, J. Varner, J. A. Sayer, D. Milosevic, M. Baum, V. Tasic and F. Hildebrandt Division of Nephrology, Department of Medicine and Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, Republic of Korea, Division of Nephrology, Department of Medicine and Division of Endocrinology/Nephrology, Department of Internal Medicine, University Clinic Leipzig, Leipzig, Germany, Department of Pediatric Nephrology, Medical Faculty Skopje, University Children’s Hospital, Skopje, Macedonia, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom, Department of Pediatric Nephrology, Dialysis and Transplantation, Clinical Hospital Center Zagreb, University of Zagreb Medical School, Zagreb, Croatia, Division of Endocrinology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, and Division of Nephrology, Department of Medicine and Howard Hughes Medical Institute, Chevy Chase, Maryland Clin J Am Soc Nephrol 2016; 11: 664e672. doi: 10.2215/CJN.07540715
Abstract available at http://www.ncbi.nlm.nih.gov/pubmed/26787776 Editorial Comment: Development of kidney stones in children is increasing in the United States. Kidney stone formation is influenced by genetic and environmental factors in most cases. These investigators found that almost 17% of children with nephrolithiasis or nephrocalcinosis have an underlying monogenic disorder prompting stone formation. This finding is consistent with other reports. This high prevalence is likely biased by the subjects being part of a tertiary referral cohort. Nevertheless, urologists must be on the lookout for such associations. Dean G. Assimos, MD
Suggested Reading Dwyer ME, Krambeck AE, Bergstralh EJ et al: Temporal trends in incidence of kidney stones among children: a 25-year population based study. J Urol 2012; 188: 247. VanDervoort K, Wiesen J, Frank R et al: Urolithiasis in pediatric patients: a single center study of incidence, clinical presentation and outcome. J Urol 2007; 177: 2300.
Re: Renal Tubular Dysfunction in Pediatric Urolithiasis: Proteomic Evidence L. Kovacevic, H. Lu, J. A. Caruso and Y. Lakshmanan Department of Pediatric Urology, Children’s Hospital of Michigan and Institute of Environmental Health Sciences, Wayne State University, Detroit, Michigan Urology 2016; Epub ahead of print. doi: 10.1016/j.urology.2016.02.003
Abstract available at http://www.ncbi.nlm.nih.gov/pubmed/26892647 Editorial Comment: Kidney stone formation has been linked to oxidative stress and inflammation. In addition, renal tubular injury may occur in this cohort. These investigators provide proteomic evidence that such processes may occur in pediatric stone formers. Similar findings have been
0022-5347/16/1962-0001/0 THE JOURNAL OF UROLOGY® Ó 2016 by AMERICAN UROLOGICAL ASSOCIATION EDUCATION
AND
RESEARCH, INC.
http://dx.doi.org/10.1016/j.juro.2016.05.041 Vol. 196, 1-2, August 2016 Printed in U.S.A.
www.jurology.com Dochead: Urological Survey
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reported in adults. Use of a pooled urine approach did not permit determination of the actual prevalence of such proteomic profiles among stone formers. Dean G. Assimos, MD
Suggested Reading Vaezzadeh AR, Steen H, Freeman MR et al: Proteomics and opportunities for clinical translation in urological disease. J Urol 2009; 182: 835. Khan SR: Reactive oxygen species as the molecular modulators of calcium oxalate kidney stone formation: evidence from clinical and experimental investigations. J Urol 2013; 189: 803. Joshi S, Wang W, Peck AB et al: Activation of the NLRP3 inflammasome in association with calcium oxalate crystal induced reactive oxygen species in kidneys. J Urol 2015; 193: 1684. Taguchi K, Okada A, Hamamoto S et al: Proinflammatory and metabolic changes facilitate renal crystal deposition in an obese mouse model of metabolic syndrome. J Urol 2015; 194: 1787.
Dochead: Urological Survey
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Urolithiasis/Endourology Re: Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis D. A. Braun, J. A. Lawson, H. Y. Gee, J. Halbritter, S. Shril, W. Tan, D. Stein, A. J. Wassner, M. A. Ferguson, Z. Gucev, B. Fisher, L. Spaneas, J. Varner, J. A. Sayer, D. Milosevic, M. Baum, V. Tasic and F. Hildebrandt Division of Nephrology, Department of Medicine and Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, Republic of Korea, Division of Nephrology, Department of Medicine and Division of Endocrinology/Nephrology, Department of Internal Medicine, University Clinic Leipzig, Leipzig, Germany, Department of Pediatric Nephrology, Medical Faculty Skopje, University Children’s Hospital, Skopje, Macedonia, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom, Department of Pediatric Nephrology, Dialysis and Transplantation, Clinical Hospital Center Zagreb, University of Zagreb Medical School, Zagreb, Croatia, Division of Endocrinology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, and Division of Nephrology, Department of Medicine and Howard Hughes Medical Institute, Chevy Chase, Maryland Clin J Am Soc Nephrol 2016; 11: 664e672. doi: 10.2215/CJN.07540715
Abstract available at http://www.ncbi.nlm.nih.gov/pubmed/26787776 Editorial Comment: Development of kidney stones in children is increasing in the United States. Kidney stone formation is influenced by genetic and environmental factors in most cases. These investigators found that almost 17% of children with nephrolithiasis or nephrocalcinosis have an underlying monogenic disorder prompting stone formation. This finding is consistent with other reports. This high prevalence is likely biased by the subjects being part of a tertiary referral cohort. Nevertheless, urologists must be on the lookout for such associations. Dean G. Assimos, MD
Suggested Reading Dwyer ME, Krambeck AE, Bergstralh EJ et al: Temporal trends in incidence of kidney stones among children: a 25-year population based study. J Urol 2012; 188: 247. VanDervoort K, Wiesen J, Frank R et al: Urolithiasis in pediatric patients: a single center study of incidence, clinical presentation and outcome. J Urol 2007; 177: 2300.
Re: Renal Tubular Dysfunction in Pediatric Urolithiasis: Proteomic Evidence L. Kovacevic, H. Lu, J. A. Caruso and Y. Lakshmanan Department of Pediatric Urology, Children’s Hospital of Michigan and Institute of Environmental Health Sciences, Wayne State University, Detroit, Michigan Urology 2016; Epub ahead of print. doi: 10.1016/j.urology.2016.02.003
Abstract available at http://www.ncbi.nlm.nih.gov/pubmed/26892647 Editorial Comment: Kidney stone formation has been linked to oxidative stress and inflammation. In addition, renal tubular injury may occur in this cohort. These investigators provide proteomic evidence that such processes may occur in pediatric stone formers. Similar findings have been
0022-5347/16/1962-0001/0 THE JOURNAL OF UROLOGY® Ó 2016 by AMERICAN UROLOGICAL ASSOCIATION EDUCATION
AND
RESEARCH, INC.
http://dx.doi.org/10.1016/j.juro.2016.05.041 Vol. 196, 1-2, August 2016 Printed in U.S.A.
www.jurology.com Dochead: Urological Survey
LIT 5.4.0 DTD JURO13733_proof 14 May 2016 4:09 pm EO:
j
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115 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147 148 149 150 151 152 153 154 155 156 157 158 159 160 161 162 163 164 165 166 167 168 169 170 171 172 173 174 175 176
reported in adults. Use of a pooled urine approach did not permit determination of the actual prevalence of such proteomic profiles among stone formers. Dean G. Assimos, MD
Suggested Reading Vaezzadeh AR, Steen H, Freeman MR et al: Proteomics and opportunities for clinical translation in urological disease. J Urol 2009; 182: 835. Khan SR: Reactive oxygen species as the molecular modulators of calcium oxalate kidney stone formation: evidence from clinical and experimental investigations. J Urol 2013; 189: 803. Joshi S, Wang W, Peck AB et al: Activation of the NLRP3 inflammasome in association with calcium oxalate crystal induced reactive oxygen species in kidneys. J Urol 2015; 193: 1684. Taguchi K, Okada A, Hamamoto S et al: Proinflammatory and metabolic changes facilitate renal crystal deposition in an obese mouse model of metabolic syndrome. J Urol 2015; 194: 1787.
Dochead: Urological Survey
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